ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu)

gnomAD frequency: 0.00011  dbSNP: rs143962510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463024 SCV001666954 likely benign Cerebral cavernous malformation 2 2020-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540020 SCV003681992 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1238C>T (p.S413L) alteration is located in exon 10 (coding exon 10) of the CCM2 gene. This alteration results from a C to T substitution at nucleotide position 1238, causing the serine (S) at amino acid position 413 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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